Article
A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.
Human molecular genetics - 15 Feb 2012
Maue Robert A, Burgess Robert W, Wang Bing, Wooley Christine M, Seburn Kevin L, Vanier Marie T, Rogers Maximillian A, Chang Catherine C, Chang Ta-Yuan, Harris Brent T, Graber David J, Penatti Carlos A A, Porter Donna M, Szwergold Benjamin S, Henderson Leslie P, Totenhagen John W, Trouard Theodore P, Borbon Ivan A, Erickson Robert P
Abstract excerpt
We have identified a point mutation in Npc1 that creates a novel mouse model (Npc1(nmf164)) of Niemann-Pick type C1 (NPC) disease: a single nucleotide change (A to G at cDNA bp 3163) that results in an aspartate to glycine change at position 1005 (D1005G). This change is in the cysteine-rich luminal loop of the NPC1 protein and is highly similar to commonly occurring human mutations. Genetic and molecular...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.